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disease: Leber congenital amaurosis 2

id5384
nameLeber congenital amaurosis 2
variant-disease NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) AND Leber congenital amaurosis 2
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) AND Leber congenital amaurosis 2
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) AND Leber congenital amaurosis 2
NM_000329.3(RPE65):c.11+5G>A AND Leber congenital amaurosis 2
NM_000329.3(RPE65):c.1451-2A>C AND Leber congenital amaurosis 2
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